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Page 1
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch R, Campistol J, García-Cazorla A. Serrano M, et al. Among authors: vilaseca ma. Pediatr Radiol. 2007 Oct;37(10):1043-6. doi: 10.1007/s00247-007-0558-2. Epub 2007 Aug 18. Pediatr Radiol. 2007. PMID: 17704913
Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A. Arias A, et al. Among authors: vilaseca ma. J Neurosci Methods. 2006 Sep 30;156(1-2):305-9. doi: 10.1016/j.jneumeth.2006.03.005. Epub 2006 Apr 18. J Neurosci Methods. 2006. PMID: 16621013
Cerebellar hemorrhage in a patient with propionic acidemia.
Velasco-Sánchez D, Gómez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol J, García-Cazorla A. Velasco-Sánchez D, et al. Among authors: vilaseca ma. Cerebellum. 2009 Sep;8(3):352-4. doi: 10.1007/s12311-009-0103-y. Epub 2009 May 26. Cerebellum. 2009. PMID: 19468795
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R. Arias A, et al. Among authors: vilaseca ma. Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10. Clin Biochem. 2007. PMID: 17825809
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: vilaseca ma. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216
Neurocognitive function in mild hyperphenylalaninemia.
Campistol J, Gassió R, Artuch R, Vilaseca MA; PKU Follow-up Unit. Campistol J, et al. Among authors: vilaseca ma. Dev Med Child Neurol. 2011 May;53(5):405-8. doi: 10.1111/j.1469-8749.2010.03869.x. Epub 2011 Mar 21. Dev Med Child Neurol. 2011. PMID: 21418193 Free article. Review.
173 results